UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.201209193A>C | CA350289375 | CASP10 | c.845A>C (p.Asp282Ala) c.917A>C (p.Asp306Ala) c.*503A>C (n.*503A>C) c.*132A>C (n.*132A>C) c.721+5427A>C (n.721+5427A>C) c.1046A>C (p.Asp349Ala) n.954A>C c.1043A>C (p.Asp348Ala) c.296A>C (p.Asp99Ala) | |
| 2 | g.201209193A>G | CA350289382 | CASP10 | c.845A>G (p.Asp282Gly) c.917A>G (p.Asp306Gly) c.*503A>G (n.*503A>G) c.*132A>G (n.*132A>G) c.721+5427A>G (n.721+5427A>G) c.1046A>G (p.Asp349Gly) n.954A>G c.1043A>G (p.Asp348Gly) c.296A>G (p.Asp99Gly) | gnomAD v4 |
| 2 | g.201209193A>T | CA350289372 | CASP10 | c.845A>T (p.Asp282Val) c.917A>T (p.Asp306Val) c.*503A>T (n.*503A>T) c.*132A>T (n.*132A>T) c.721+5427A>T (n.721+5427A>T) c.1046A>T (p.Asp349Val) n.954A>T c.1043A>T (p.Asp348Val) c.296A>T (p.Asp99Val) | |
| 2 | g.201209194C>A | CA350289388 | CASP10 | c.846C>A (p.Asp282Glu) c.918C>A (p.Asp306Glu) c.*504C>A (n.*504C>A) c.*133C>A (n.*133C>A) c.721+5428C>A (n.721+5428C>A) c.1047C>A (p.Asp349Glu) n.955C>A c.1044C>A (p.Asp348Glu) c.297C>A (p.Asp99Glu) | |
| 2 | g.201209194C>G | CA350289396 | CASP10 | c.846C>G (p.Asp282Glu) c.918C>G (p.Asp306Glu) c.*504C>G (n.*504C>G) c.*133C>G (n.*133C>G) c.721+5428C>G (n.721+5428C>G) c.1047C>G (p.Asp349Glu) n.955C>G c.1044C>G (p.Asp348Glu) c.297C>G (p.Asp99Glu) | |
| 2 | g.201209194C>T | CA430614326 | CASP10 | c.846C>T (p.Asp282=) c.918C>T (p.Asp306=) c.*504C>T (n.*504C>T) c.*133C>T (n.*133C>T) c.721+5428C>T (n.721+5428C>T) c.1047C>T (p.Asp349=) n.955C>T c.1044C>T (p.Asp348=) c.297C>T (p.Asp99=) | |
| 2 | g.201209195T>A | CA2053170 | CASP10 | c.847T>A (p.Cys283Ser) c.919T>A (p.Cys307Ser) c.*505T>A (n.*505T>A) c.*134T>A (n.*134T>A) c.721+5429T>A (n.721+5429T>A) c.1048T>A (p.Cys350Ser) n.956T>A c.1045T>A (p.Cys349Ser) c.298T>A (p.Cys100Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.201209195T>C | CA350289419 | CASP10 | c.847T>C (p.Cys283Arg) c.919T>C (p.Cys307Arg) c.*505T>C (n.*505T>C) c.*134T>C (n.*134T>C) c.721+5429T>C (n.721+5429T>C) c.1048T>C (p.Cys350Arg) n.956T>C c.1045T>C (p.Cys349Arg) c.298T>C (p.Cys100Arg) | |
| 2 | g.201209195T>G | CA350289423 | CASP10 | c.847T>G (p.Cys283Gly) c.919T>G (p.Cys307Gly) c.*505T>G (n.*505T>G) c.*134T>G (n.*134T>G) c.721+5429T>G (n.721+5429T>G) c.1048T>G (p.Cys350Gly) n.956T>G c.1045T>G (p.Cys349Gly) c.298T>G (p.Cys100Gly) | gnomAD v4 |
| 2 | g.201209195T= | CA1320967264 | CASP10 | c.847T= (p.Cys283=) c.919T= (p.Cys307=) c.*505T= (n.*505T=) c.*134T= (n.*134T=) c.721+5429T= (n.721+5429T=) c.1048T= (p.Cys350=) n.956T= c.1045T= (p.Cys349=) c.298T= (p.Cys100=) | |
| 2 | g.201209196G>A | CA2053171 | CASP10 | c.848G>A (p.Cys283Tyr) c.920G>A (p.Cys307Tyr) c.*506G>A (n.*506G>A) c.*135G>A (n.*135G>A) c.721+5430G>A (n.721+5430G>A) c.1049G>A (p.Cys350Tyr) n.957G>A c.1046G>A (p.Cys349Tyr) c.299G>A (p.Cys100Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.201209196G>C | CA350289431 | CASP10 | c.848G>C (p.Cys283Ser) c.920G>C (p.Cys307Ser) c.*506G>C (n.*506G>C) c.*135G>C (n.*135G>C) c.721+5430G>C (n.721+5430G>C) c.1049G>C (p.Cys350Ser) n.957G>C c.1046G>C (p.Cys349Ser) c.299G>C (p.Cys100Ser) | |
| 2 | g.201209196G= | CA1320967265 | CASP10 | c.848G= (p.Cys283=) c.920G= (p.Cys307=) c.*506G= (n.*506G=) c.*135G= (n.*135G=) c.721+5430G= (n.721+5430G=) c.1049G= (p.Cys350=) n.957G= c.1046G= (p.Cys349=) c.299G= (p.Cys100=) | |
| 2 | g.201209196G>T | CA350289433 | CASP10 | c.848G>T (p.Cys283Phe) c.920G>T (p.Cys307Phe) c.*506G>T (n.*506G>T) c.*135G>T (n.*135G>T) c.721+5430G>T (n.721+5430G>T) c.1049G>T (p.Cys350Phe) n.957G>T c.1046G>T (p.Cys349Phe) c.299G>T (p.Cys100Phe) | |
| 2 | g.201209197C>A | CA350289443 | CASP10 | c.849C>A (p.Cys283Ter) c.921C>A (p.Cys307Ter) c.*507C>A (n.*507C>A) c.*136C>A (n.*136C>A) c.721+5431C>A (n.721+5431C>A) c.1050C>A (p.Cys350Ter) n.958C>A c.1047C>A (p.Cys349Ter) c.300C>A (p.Cys100Ter) | |
| 2 | g.201209197C>G | CA350289456 | CASP10 | c.849C>G (p.Cys283Trp) c.921C>G (p.Cys307Trp) c.*507C>G (n.*507C>G) c.*136C>G (n.*136C>G) c.721+5431C>G (n.721+5431C>G) c.1050C>G (p.Cys350Trp) n.958C>G c.1047C>G (p.Cys349Trp) c.300C>G (p.Cys100Trp) | |
| 2 | g.201209197C>T | CA430614341 | CASP10 | c.849C>T (p.Cys283=) c.921C>T (p.Cys307=) c.*507C>T (n.*507C>T) c.*136C>T (n.*136C>T) c.721+5431C>T (n.721+5431C>T) c.1050C>T (p.Cys350=) n.958C>T c.1047C>T (p.Cys349=) c.300C>T (p.Cys100=) | |
| 2 | g.201209198T>A | CA350289459 | CASP10 | c.850T>A (p.Phe284Ile) c.922T>A (p.Phe308Ile) c.*508T>A (n.*508T>A) c.*137T>A (n.*137T>A) c.721+5432T>A (n.721+5432T>A) c.1051T>A (p.Phe351Ile) n.959T>A c.1048T>A (p.Phe350Ile) c.301T>A (p.Phe101Ile) | |
| 2 | g.201209198T>C | CA350289460 | CASP10 | c.850T>C (p.Phe284Leu) c.922T>C (p.Phe308Leu) c.*508T>C (n.*508T>C) c.*137T>C (n.*137T>C) c.721+5432T>C (n.721+5432T>C) c.1051T>C (p.Phe351Leu) n.959T>C c.1048T>C (p.Phe350Leu) c.301T>C (p.Phe101Leu) | |
| 2 | g.201209198T>G | CA350289462 | CASP10 | c.850T>G (p.Phe284Val) c.922T>G (p.Phe308Val) c.*508T>G (n.*508T>G) c.*137T>G (n.*137T>G) c.721+5432T>G (n.721+5432T>G) c.1051T>G (p.Phe351Val) n.959T>G c.1048T>G (p.Phe350Val) c.301T>G (p.Phe101Val) | |
| 2 | g.201209199T>A | CA350289464 | CASP10 | c.851T>A (p.Phe284Tyr) c.923T>A (p.Phe308Tyr) c.*509T>A (n.*509T>A) c.*138T>A (n.*138T>A) c.721+5433T>A (n.721+5433T>A) c.1052T>A (p.Phe351Tyr) n.960T>A c.1049T>A (p.Phe350Tyr) c.302T>A (p.Phe101Tyr) | |
| 2 | g.201209199T>C | CA350289475 | CASP10 | c.851T>C (p.Phe284Ser) c.923T>C (p.Phe308Ser) c.*509T>C (n.*509T>C) c.*138T>C (n.*138T>C) c.721+5433T>C (n.721+5433T>C) c.1052T>C (p.Phe351Ser) n.960T>C c.1049T>C (p.Phe350Ser) c.302T>C (p.Phe101Ser) | |
| 2 | g.201209199T>G | CA350289466 | CASP10 | c.851T>G (p.Phe284Cys) c.923T>G (p.Phe308Cys) c.*509T>G (n.*509T>G) c.*138T>G (n.*138T>G) c.721+5433T>G (n.721+5433T>G) c.1052T>G (p.Phe351Cys) n.960T>G c.1049T>G (p.Phe350Cys) c.302T>G (p.Phe101Cys) | |
| 2 | g.201209200C>A | CA350289478 | CASP10 | c.852C>A (p.Phe284Leu) c.924C>A (p.Phe308Leu) c.*510C>A (n.*510C>A) c.*139C>A (n.*139C>A) c.721+5434C>A (n.721+5434C>A) c.1053C>A (p.Phe351Leu) n.961C>A c.1050C>A (p.Phe350Leu) c.303C>A (p.Phe101Leu) | |
| 2 | g.201209200C= | CA1320967266 | CASP10 | c.852C= (p.Phe284=) c.924C= (p.Phe308=) c.*510C= (n.*510C=) c.*139C= (n.*139C=) c.721+5434C= (n.721+5434C=) c.1053C= (p.Phe351=) n.961C= c.1050C= (p.Phe350=) c.303C= (p.Phe101=) | |
| 2 | g.201209200C>G | CA350289481 | CASP10 | c.852C>G (p.Phe284Leu) c.924C>G (p.Phe308Leu) c.*510C>G (n.*510C>G) c.*139C>G (n.*139C>G) c.721+5434C>G (n.721+5434C>G) c.1053C>G (p.Phe351Leu) n.961C>G c.1050C>G (p.Phe350Leu) c.303C>G (p.Phe101Leu) | |
| 2 | g.201209200C>T | CA2053172 | CASP10 | c.852C>T (p.Phe284=) c.924C>T (p.Phe308=) c.*510C>T (n.*510C>T) c.*139C>T (n.*139C>T) c.721+5434C>T (n.721+5434C>T) c.1053C>T (p.Phe351=) n.961C>T c.1050C>T (p.Phe350=) c.303C>T (p.Phe101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.201209201G>A | CA2053173 | CASP10 | c.853G>A (p.Val285Met) c.925G>A (p.Val309Met) c.*511G>A (n.*511G>A) c.*140G>A (n.*140G>A) c.721+5435G>A (n.721+5435G>A) c.1054G>A (p.Val352Met) n.962G>A c.1051G>A (p.Val351Met) c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.201209201G>C | CA350289491 | CASP10 | c.853G>C (p.Val285Leu) c.925G>C (p.Val309Leu) c.*511G>C (n.*511G>C) c.*140G>C (n.*140G>C) c.721+5435G>C (n.721+5435G>C) c.1054G>C (p.Val352Leu) n.962G>C c.1051G>C (p.Val351Leu) c.304G>C (p.Val102Leu) | |
| 2 | g.201209201G= | CA1320967267 | CASP10 | c.853G= (p.Val285=) c.925G= (p.Val309=) c.*511G= (n.*511G=) c.*140G= (n.*140G=) c.721+5435G= (n.721+5435G=) c.1054G= (p.Val352=) n.962G= c.1051G= (p.Val351=) c.304G= (p.Val102=) | |
| 2 | g.201209201G>T | CA350289496 | CASP10 | c.853G>T (p.Val285Leu) c.925G>T (p.Val309Leu) c.*511G>T (n.*511G>T) c.*140G>T (n.*140G>T) c.721+5435G>T (n.721+5435G>T) c.1054G>T (p.Val352Leu) n.962G>T c.1051G>T (p.Val351Leu) c.304G>T (p.Val102Leu) | |
| 2 | g.201209202T>A | CA350289501 | CASP10 | c.854T>A (p.Val285Glu) c.926T>A (p.Val309Glu) c.*512T>A (n.*512T>A) c.*141T>A (n.*141T>A) c.721+5436T>A (n.721+5436T>A) c.1055T>A (p.Val352Glu) n.963T>A c.1052T>A (p.Val351Glu) c.305T>A (p.Val102Glu) | |
| 2 | g.201209202T>C | CA350289506 | CASP10 | c.854T>C (p.Val285Ala) c.926T>C (p.Val309Ala) c.*512T>C (n.*512T>C) c.*141T>C (n.*141T>C) c.721+5436T>C (n.721+5436T>C) c.1055T>C (p.Val352Ala) n.963T>C c.1052T>C (p.Val351Ala) c.305T>C (p.Val102Ala) | dbSNP gnomAD v4 |
| 2 | g.201209202T>G | CA350289510 | CASP10 | c.854T>G (p.Val285Gly) c.926T>G (p.Val309Gly) c.*512T>G (n.*512T>G) c.*141T>G (n.*141T>G) c.721+5436T>G (n.721+5436T>G) c.1055T>G (p.Val352Gly) n.963T>G c.1052T>G (p.Val351Gly) c.305T>G (p.Val102Gly) | |
| 2 | g.201209202T= | CA1320967268 | CASP10 | c.854T= (p.Val285=) c.926T= (p.Val309=) c.*512T= (n.*512T=) c.*141T= (n.*141T=) c.721+5436T= (n.721+5436T=) c.1055T= (p.Val352=) n.963T= c.1052T= (p.Val351=) c.305T= (p.Val102=) | |
| 2 | g.201209203G>A | CA430614388 | CASP10 | c.855G>A (p.Val285=) c.927G>A (p.Val309=) c.*513G>A (n.*513G>A) c.*142G>A (n.*142G>A) c.721+5437G>A (n.721+5437G>A) c.1056G>A (p.Val352=) n.964G>A c.1053G>A (p.Val351=) c.306G>A (p.Val102=) | |
| 2 | g.201209203G>C | CA430614390 | CASP10 | c.855G>C (p.Val285=) c.927G>C (p.Val309=) c.*513G>C (n.*513G>C) c.*142G>C (n.*142G>C) c.721+5437G>C (n.721+5437G>C) c.1056G>C (p.Val352=) n.964G>C c.1053G>C (p.Val351=) c.306G>C (p.Val102=) | |
| 2 | g.201209203G>T | CA430614392 | CASP10 | c.855G>T (p.Val285=) c.927G>T (p.Val309=) c.*513G>T (n.*513G>T) c.*142G>T (n.*142G>T) c.721+5437G>T (n.721+5437G>T) c.1056G>T (p.Val352=) n.964G>T c.1053G>T (p.Val351=) c.306G>T (p.Val102=) | |
| 2 | g.201209204T>A | CA350289513 | CASP10 | c.856T>A (p.Phe286Ile) c.928T>A (p.Phe310Ile) c.*514T>A (n.*514T>A) c.*143T>A (n.*143T>A) c.721+5438T>A (n.721+5438T>A) c.1057T>A (p.Phe353Ile) n.965T>A c.1054T>A (p.Phe352Ile) c.307T>A (p.Phe103Ile) | |
| 2 | g.201209204T>C | CA350289517 | CASP10 | c.856T>C (p.Phe286Leu) c.928T>C (p.Phe310Leu) c.*514T>C (n.*514T>C) c.*143T>C (n.*143T>C) c.721+5438T>C (n.721+5438T>C) c.1057T>C (p.Phe353Leu) n.965T>C c.1054T>C (p.Phe352Leu) c.307T>C (p.Phe103Leu) | |
| 2 | g.201209204T>G | CA350289523 | CASP10 | c.856T>G (p.Phe286Val) c.928T>G (p.Phe310Val) c.*514T>G (n.*514T>G) c.*143T>G (n.*143T>G) c.721+5438T>G (n.721+5438T>G) c.1057T>G (p.Phe353Val) n.965T>G c.1054T>G (p.Phe352Val) c.307T>G (p.Phe103Val) | |
| 2 | g.201209205T>A | CA350289534 | CASP10 | c.857T>A (p.Phe286Tyr) c.929T>A (p.Phe310Tyr) c.*515T>A (n.*515T>A) c.*144T>A (n.*144T>A) c.721+5439T>A (n.721+5439T>A) c.1058T>A (p.Phe353Tyr) n.966T>A c.1055T>A (p.Phe352Tyr) c.308T>A (p.Phe103Tyr) | |
| 2 | g.201209205T>C | CA350289538 | CASP10 | c.857T>C (p.Phe286Ser) c.929T>C (p.Phe310Ser) c.*515T>C (n.*515T>C) c.*144T>C (n.*144T>C) c.721+5439T>C (n.721+5439T>C) c.1058T>C (p.Phe353Ser) n.966T>C c.1055T>C (p.Phe352Ser) c.308T>C (p.Phe103Ser) | |
| 2 | g.201209205T>G | CA350289528 | CASP10 | c.857T>G (p.Phe286Cys) c.929T>G (p.Phe310Cys) c.*515T>G (n.*515T>G) c.*144T>G (n.*144T>G) c.721+5439T>G (n.721+5439T>G) c.1058T>G (p.Phe353Cys) n.966T>G c.1055T>G (p.Phe352Cys) c.308T>G (p.Phe103Cys) | |
| 2 | g.201209206C>A | CA350289543 | CASP10 | c.858C>A (p.Phe286Leu) c.930C>A (p.Phe310Leu) c.*516C>A (n.*516C>A) c.*145C>A (n.*145C>A) c.721+5440C>A (n.721+5440C>A) c.1059C>A (p.Phe353Leu) n.967C>A c.1056C>A (p.Phe352Leu) c.309C>A (p.Phe103Leu) | |
| 2 | g.201209206C>G | CA350289547 | CASP10 | c.858C>G (p.Phe286Leu) c.930C>G (p.Phe310Leu) c.*516C>G (n.*516C>G) c.*145C>G (n.*145C>G) c.721+5440C>G (n.721+5440C>G) c.1059C>G (p.Phe353Leu) n.967C>G c.1056C>G (p.Phe352Leu) c.309C>G (p.Phe103Leu) | |
| 2 | g.201209206C>T | CA430614403 | CASP10 | c.858C>T (p.Phe286=) c.930C>T (p.Phe310=) c.*516C>T (n.*516C>T) c.*145C>T (n.*145C>T) c.721+5440C>T (n.721+5440C>T) c.1059C>T (p.Phe353=) n.967C>T c.1056C>T (p.Phe352=) c.309C>T (p.Phe103=) | |
| 2 | g.201209207T>A | CA350289556 | CASP10 | c.859T>A (p.Cys287Ser) c.931T>A (p.Cys311Ser) c.*517T>A (n.*517T>A) c.*146T>A (n.*146T>A) c.721+5441T>A (n.721+5441T>A) c.1060T>A (p.Cys354Ser) n.968T>A c.1057T>A (p.Cys353Ser) c.310T>A (p.Cys104Ser) | |
| 2 | g.201209207T>C | CA350289559 | CASP10 | c.859T>C (p.Cys287Arg) c.931T>C (p.Cys311Arg) c.*517T>C (n.*517T>C) c.*146T>C (n.*146T>C) c.721+5441T>C (n.721+5441T>C) c.1060T>C (p.Cys354Arg) n.968T>C c.1057T>C (p.Cys353Arg) c.310T>C (p.Cys104Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.201209207T>G | CA350289565 | CASP10 | c.859T>G (p.Cys287Gly) c.931T>G (p.Cys311Gly) c.*517T>G (n.*517T>G) c.*146T>G (n.*146T>G) c.721+5441T>G (n.721+5441T>G) c.1060T>G (p.Cys354Gly) n.968T>G c.1057T>G (p.Cys353Gly) c.310T>G (p.Cys104Gly) |